Kidney Diseases, Cystic
-
Subject Areas on Research
- A systematic approach to mapping recessive disease genes in individuals from outbred populations.
- A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.
- ACR Appropriateness Criteria indeterminate renal mass.
- AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.
- Accuracy of radionuclide imaging in distinguishing renal masses from normal variants.
- Active Surveillance Versus Nephron-Sparing Surgery for a Bosniak IIF or III Renal Cyst: A Cost-Effectiveness Analysis.
- Acute renal failure in pregnancy associated with solitary kidney, congenital ureteropelvic junction obstruction, and renal cortical cyst.
- Biochemical characterization of purified mammalian ARL13B protein indicates that it is an atypical GTPase and ARL3 guanine nucleotide exchange factor (GEF).
- Bosniak category IIF and III cystic renal lesions: outcomes and associations.
- CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
- Characterization of Incidental Renal Mass With Dual-Energy CT: Diagnostic Accuracy of Effective Atomic Number Maps for Discriminating Nonenhancing Cysts From Enhancing Masses.
- Computed tomography of high density renal cysts.
- Cystic diseases of the kidney: ciliary dysfunction and cystogenic mechanisms.
- DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling.
- Death from renal cyst.
- Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.
- Detection of renal lesion enhancement with dual-energy multidetector CT.
- Developmental cystic renal neoplasms in children. Diagnostic imaging characteristics.
- Evaluation of pseudoenhancement of renal cysts during contrast-enhanced CT.
- Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.
- Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.
- Extracorporeal shock wave lithotripsy for renal stones with renal cysts present.
- Focal cystic high-attenuation lesions: characterization in renal phantom by using photon-counting spectral CT--improved differentiation of lesion composition.
- Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.
- Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
- Imaging the renal lesion with dual-energy multidetector CT and multi-energy applications in clinical practice: what can it truly do for you?
- Impact of dual-energy multi-detector row CT with virtual monochromatic imaging on renal cyst pseudoenhancement: in vitro and in vivo study.
- Importance of routine vascular nephrotomography in excretory urography.
- Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
- Loss of Arf4 causes severe degeneration of the exocrine pancreas but not cystic kidney disease or retinal degeneration.
- Malignant cystic nephroma.
- Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
- Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotype.
- Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.
- Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.
- Nephrocystin-3 is required for ciliary function in zebrafish embryos.
- Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
- Outcomes and complications related to the management of Bosniak cystic renal lesions.
- Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
- Pitchfork regulates primary cilia disassembly and left-right asymmetry.
- Pseudoenhancement of simple renal cysts: a comparison of single and multidetector helical CT.
- Radiological approach to renal cysts and the Bosniak classification system.
- Renal cystic disease.
- Renal milk of calcium: contraindication to extracorporeal shockwave lithotripsy.
- Sonography of small renal masses with indeterminant density characteristics on computed tomography.
- Surgical validation of angiographic studies of renal lesions.
- Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity onset diabetes of the young type 5.
- TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.
- The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
- The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development.
- The significance of septations in a renal cyst.
- Ultrasonographic evaluation of fetal paranephric pseudocysts.
- Ultrasonographic findings of small hypernephroma associated with renal cyst.
- Vertebrate kidney tubules elongate using a planar cell polarity-dependent, rosette-based mechanism of convergent extension.
- Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies.
- Wnt5a is necessary for normal kidney development in zebrafish and mice.
- [Cystic nephroma].